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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Vesicular and bullous disorders: pemphigus.
Baroni A, Lanza A, Cirillo N, Brunetti G, Ruocco E, Ruocco V. Baroni A, et al. Dermatol Clin. 2007 Oct;25(4):597-603, ix. doi: 10.1016/j.det.2007.07.001. Dermatol Clin. 2007. PMID: 17903618 Review.
Fecal microbiota transplantation in HIV: A pilot placebo-controlled study.
Serrano-Villar S, Talavera-Rodríguez A, Gosalbes MJ, Madrid N, Pérez-Molina JA, Elliott RJ, Navia B, Lanza VF, Vallejo A, Osman M, Dronda F, Budree S, Zamora J, Gutiérrez C, Manzano M, Vivancos MJ, Ron R, Martínez-Sanz J, Herrera S, Ansa U, Moya A, Moreno S. Serrano-Villar S, et al. Nat Commun. 2021 Feb 18;12(1):1139. doi: 10.1038/s41467-021-21472-1. Nat Commun. 2021. PMID: 33602945 Free PMC article. Clinical Trial.